Patient and health care practitioner experiences and perspectives on expanded carrier screening: A scoping review

Carrier screening identifies individuals/couples at risk for autosomal recessive conditions, and expanded or universal approaches are increasingly being recommended. Implementation poses clinical, ethical, and logistical challenges that remain underexplored. This scoping review synthesized patient/public and health care practitioner experiences and perspectives on expanded carrier screening (ECS) and universal carrier screening. A search of 4 databases identified 1433 records, plus 19 additional studies. After screening and full-text review (112 articles), 45 studies were included in this review. Content analysis was conducted, and findings were mapped to the theoretical domains framework to guide implementation. Six major categories were identified: (1) attitudes and awareness of screening; (2) barriers and concerns regarding ECS decision-making; (3) personal and broader public-health benefits; (4) ethical, psychological, and equity considerations; (5) infrastructure, clinical, and policy considerations; and (6) research gaps and future directions. Key theoretical domains framework domains included beliefs about consequences, environmental context and resources, social/professional role and identity, and emotion. Engagement with ECS/ universal carrier screening is shaped by intersecting emotional, ethical, and systemic factors. The findings support behaviorally informed strategies and identify critical priorities for future research, education, and policy development.